Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia

新生儿无胸腺症合并眼裂缺损、心脏缺陷、后鼻孔闭锁、生长迟缓、生殖器异常和耳畸形(CHARGE)综合征和异位症

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Abstract

The case presented highlights a unique presentation of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome along with athymia and heterotaxy to establish a possible association between these 2 well-known patterns of multiple malformations.

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